ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive limb-girdle muscular dystrophy type 2H by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_012210.4(TRIM32):c.292C>A (p.Leu98Ile) rs201877419 0.00039
NM_012210.4(TRIM32):c.521C>T (p.Ser174Phe) rs138699534 0.00019
NM_012210.4(TRIM32):c.578G>A (p.Arg193His) rs373853273 0.00019
NM_012210.4(TRIM32):c.863C>A (p.Pro288His) rs367574371 0.00012
NM_012210.4(TRIM32):c.494G>T (p.Arg165Leu) rs761591526 0.00009
NM_012210.4(TRIM32):c.979A>G (p.Met327Val) rs373287765 0.00009
NM_012210.4(TRIM32):c.1012G>A (p.Ala338Thr) rs141806013 0.00008
NM_012210.4(TRIM32):c.480G>A (p.Met160Ile) rs200196832 0.00006
NM_012210.4(TRIM32):c.524A>G (p.Lys175Arg) rs777911858 0.00006
NM_012210.4(TRIM32):c.973A>G (p.Met325Val) rs148027625 0.00006
NM_012210.4(TRIM32):c.257T>C (p.Ile86Thr) rs200326473 0.00005
NM_012210.4(TRIM32):c.1198C>T (p.Arg400Cys) rs140059042 0.00004
NM_012210.4(TRIM32):c.127A>G (p.Ile43Val) rs764366522 0.00004
NM_012210.4(TRIM32):c.1354C>T (p.Leu452Phe) rs747067557 0.00004
NM_012210.4(TRIM32):c.1544G>A (p.Arg515Gln) rs781359060 0.00004
NM_012210.4(TRIM32):c.265G>A (p.Ala89Thr) rs539376933 0.00004
NM_012210.4(TRIM32):c.302G>A (p.Arg101Gln) rs758882829 0.00004
NM_012210.4(TRIM32):c.496C>T (p.Arg166Trp) rs752016708 0.00004
NM_012210.4(TRIM32):c.986C>T (p.Pro329Leu) rs377510422 0.00004
NM_012210.4(TRIM32):c.1168C>T (p.Arg390Cys) rs754554333 0.00003
NM_012210.4(TRIM32):c.1226G>A (p.Arg409His) rs145828717 0.00003
NM_012210.4(TRIM32):c.133C>T (p.Arg45Cys) rs753738560 0.00003
NM_012210.4(TRIM32):c.1400G>C (p.Ser467Thr) rs151116227 0.00003
NM_012210.4(TRIM32):c.1648T>C (p.Phe550Leu) rs752860146 0.00003
NM_012210.4(TRIM32):c.206G>A (p.Arg69His) rs11556350 0.00003
NM_012210.4(TRIM32):c.434G>A (p.Arg145Gln) rs753519978 0.00003
NM_012210.4(TRIM32):c.488T>C (p.Leu163Pro) rs775940650 0.00003
NM_012210.4(TRIM32):c.1046C>G (p.Ala349Gly) rs774316527 0.00002
NM_012210.4(TRIM32):c.1579G>A (p.Val527Ile) rs368901621 0.00002
NM_012210.4(TRIM32):c.314G>A (p.Arg105Gln) rs949658602 0.00002
NM_012210.4(TRIM32):c.440G>A (p.Arg147Gln) rs552938001 0.00002
NM_012210.4(TRIM32):c.497G>A (p.Arg166Gln) rs759945386 0.00002
NM_012210.4(TRIM32):c.812G>A (p.Arg271Gln) rs773872830 0.00002
NM_012210.4(TRIM32):c.896G>A (p.Arg299Gln) rs766439806 0.00002
NM_012210.4(TRIM32):c.907G>A (p.Val303Met) rs144532174 0.00002
NM_012210.4(TRIM32):c.1004G>A (p.Ser335Asn) rs778321975 0.00001
NM_012210.4(TRIM32):c.1061A>G (p.Gln354Arg) rs1266244841 0.00001
NM_012210.4(TRIM32):c.1115A>G (p.Asn372Ser) rs781488306 0.00001
NM_012210.4(TRIM32):c.114C>T (p.His38=) rs761012752 0.00001
NM_012210.4(TRIM32):c.1153G>A (p.Val385Ile) rs1564217317 0.00001
NM_012210.4(TRIM32):c.1196C>T (p.Thr399Ile) rs1182257457 0.00001
NM_012210.4(TRIM32):c.1321C>G (p.Leu441Val) rs987882732 0.00001
NM_012210.4(TRIM32):c.134G>A (p.Arg45His) rs143760041 0.00001
NM_012210.4(TRIM32):c.136C>G (p.Gln46Glu) rs1193048642 0.00001
NM_012210.4(TRIM32):c.1488C>G (p.Phe496Leu) rs371233848 0.00001
NM_012210.4(TRIM32):c.1618C>T (p.Arg540Trp) rs147803099 0.00001
NM_012210.4(TRIM32):c.1619G>A (p.Arg540Gln) rs761503419 0.00001
NM_012210.4(TRIM32):c.1642G>A (p.Gly548Ser) rs946701093 0.00001
NM_012210.4(TRIM32):c.1780A>G (p.Ser594Gly) rs757524831 0.00001
NM_012210.4(TRIM32):c.1954A>G (p.Thr652Ala) rs763172140 0.00001
NM_012210.4(TRIM32):c.1957C>T (p.Pro653Ser) rs899549661 0.00001
NM_012210.4(TRIM32):c.236A>G (p.Asn79Ser) rs775738712 0.00001
NM_012210.4(TRIM32):c.277G>A (p.Glu93Lys) rs754449534 0.00001
NM_012210.4(TRIM32):c.325C>T (p.Arg109Trp) rs776796546 0.00001
NM_012210.4(TRIM32):c.32T>C (p.Leu11Pro) rs767818381 0.00001
NM_012210.4(TRIM32):c.377C>T (p.Ala126Val) rs755478136 0.00001
NM_012210.4(TRIM32):c.430G>A (p.Glu144Lys) rs760202414 0.00001
NM_012210.4(TRIM32):c.464G>A (p.Arg155His) rs777914761 0.00001
NM_012210.4(TRIM32):c.493C>T (p.Arg165Trp) rs1378775801 0.00001
NM_012210.4(TRIM32):c.577C>T (p.Arg193Cys) rs568433214 0.00001
NM_012210.4(TRIM32):c.650A>G (p.Asn217Ser) rs374248541 0.00001
NM_012210.4(TRIM32):c.688A>G (p.Ile230Val) rs139113969 0.00001
NM_012210.4(TRIM32):c.69C>T (p.Cys23=) rs575633576 0.00001
NM_012210.4(TRIM32):c.889A>G (p.Lys297Glu) rs759742371 0.00001
NM_012210.4(TRIM32):c.938C>T (p.Ala313Val) rs794727284 0.00001
NM_012210.4(TRIM32):c.*152T>G rs868402796
NM_012210.4(TRIM32):c.1018C>A (p.Pro340Thr)
NM_012210.4(TRIM32):c.1030C>T (p.Arg344Trp)
NM_012210.4(TRIM32):c.1075A>C (p.Lys359Gln)
NM_012210.4(TRIM32):c.1135G>A (p.Val379Met) rs1861026363
NM_012210.4(TRIM32):c.1199G>T (p.Arg400Leu) rs373015960
NM_012210.4(TRIM32):c.1289C>T (p.Thr430Ile)
NM_012210.4(TRIM32):c.1381T>C (p.Cys461Arg)
NM_012210.4(TRIM32):c.138G>C (p.Gln46His)
NM_012210.4(TRIM32):c.1499G>A (p.Arg500Gln)
NM_012210.4(TRIM32):c.1504T>C (p.Ser502Pro)
NM_012210.4(TRIM32):c.1537G>A (p.Ala513Thr)
NM_012210.4(TRIM32):c.1658G>T (p.Gly553Val)
NM_012210.4(TRIM32):c.165C>G (p.Ser55Arg)
NM_012210.4(TRIM32):c.1688G>T (p.Arg563Leu)
NM_012210.4(TRIM32):c.1696A>G (p.Ser566Gly) rs779755416
NM_012210.4(TRIM32):c.1703TCT[1] (p.Phe569del) rs1190512893
NM_012210.4(TRIM32):c.1710G>A (p.Ser570=) rs555217187
NM_012210.4(TRIM32):c.1763A>T (p.Asp588Val) rs746890090
NM_012210.4(TRIM32):c.1786C>T (p.Arg596Cys) rs765348678
NM_012210.4(TRIM32):c.1787G>A (p.Arg596His) rs750300057
NM_012210.4(TRIM32):c.1856C>T (p.Pro619Leu)
NM_012210.4(TRIM32):c.1951T>C (p.Ser651Pro) rs1402865703
NM_012210.4(TRIM32):c.287G>C (p.Gly96Ala)
NM_012210.4(TRIM32):c.347G>A (p.Gly116Asp) rs767024504
NM_012210.4(TRIM32):c.381C>G (p.Asp127Glu)
NM_012210.4(TRIM32):c.407T>A (p.Leu136His)
NM_012210.4(TRIM32):c.422C>A (p.Ala141Glu) rs930137730
NM_012210.4(TRIM32):c.463C>A (p.Arg155Ser) rs374055553
NM_012210.4(TRIM32):c.464G>C (p.Arg155Pro) rs777914761
NM_012210.4(TRIM32):c.469C>T (p.Arg157Trp)
NM_012210.4(TRIM32):c.479T>C (p.Met160Thr) rs199699832
NM_012210.4(TRIM32):c.482G>A (p.Gly161Glu)
NM_012210.4(TRIM32):c.494G>A (p.Arg165Gln) rs761591526
NM_012210.4(TRIM32):c.50T>C (p.Val17Ala)
NM_012210.4(TRIM32):c.601C>T (p.Arg201Cys) rs147304059
NM_012210.4(TRIM32):c.694G>C (p.Glu232Gln)
NM_012210.4(TRIM32):c.700C>A (p.Gln234Lys) rs886043553
NM_012210.4(TRIM32):c.713G>A (p.Arg238His)
NM_012210.4(TRIM32):c.739A>G (p.Lys247Glu) rs2132072729
NM_012210.4(TRIM32):c.749A>G (p.Asp250Gly)
NM_012210.4(TRIM32):c.811C>G (p.Arg271Gly) rs372298402
NM_012210.4(TRIM32):c.811C>T (p.Arg271Trp) rs372298402
NM_012210.4(TRIM32):c.842T>C (p.Leu281Pro) rs1861006758
NM_012210.4(TRIM32):c.859G>T (p.Gly287Cys)
NM_012210.4(TRIM32):c.863C>G (p.Pro288Arg)
NM_012210.4(TRIM32):c.873T>G (p.Ile291Met) rs766687896
NM_012210.4(TRIM32):c.986C>G (p.Pro329Arg) rs377510422
NM_012210.4(TRIM32):c.98G>A (p.Arg33His) rs199863390
NM_012210.4(TRIM32):c.991G>A (p.Glu331Lys)
NM_012210.4(TRIM32):c.994G>A (p.Val332Met)

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